Genetic Disorders and Biochemical Pathology — MCQs

A male infant's parents report that male children over three generations in the mother's family have been affected by a progressive disorder involving multiple organ systems. These children had coarse facial features, corneal clouding, joint stiffness, hepatosplenomegaly, and mental retardation, and many died in childhood. At autopsy, some of the children had subendothelial coronary arterial deposits that caused myocardial infarction. Laboratory testing of the infant shows increased urinary excretion of mucopolysaccharides. Bone marrow biopsy reveals that the accumulated mucopolysaccharides are found in macrophages ('balloon cells' filled with minute vacuoles). Which of the following enzyme deficiencies is most likely to be seen in this infant?

For the development of sickle cell disease, the codon for the amino acid glutamate is replaced with the codon for which amino acid at the 6th position of the beta-globin gene?

A child presents with massive hepatomegaly and hypoglycemia. There is no improvement in blood glucose on the administration of glucagon. What is the probable diagnosis?

Enzyme replacement therapy is not available for which of the following diseases?

Cystic fibrosis is inherited as an autosomal recessive condition. A normal couple has one daughter affected with the disease. They are now planning to have another child. What is the chance of her sibling being affected by the disease?

In 1990, Michaele Blease and W. French Andresco of the National Institute of Health, Bethesda, U.S.A. attempted gene therapy on a human patient. Which of the following diseases was attempted to be cured?

Chronic nonspherocytic hemolytic anemia is a manifestation of:

In Alkaptonuria, which enzyme is deficient?

Trisomy 21 is also known as:

Hanup disease is related to which of the following conditions?